Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Peripheral neuropathy (HP:0009830)

Parent Node:
Sensory neuropathy (HP:0000763)

..Starting node
..Distal sensory impairment of all modalities (HP:0003409)

Term ID:

3409

Name:

Distal sensory impairment of all modalities

Synonym:

Distal sensory loss to all modalities

Definition:

Reduced ability to sense pain, temperature, touch, vibration stimuli in the distal regions of the extremities.

Comments:

Reference:

HP:0003409

Genes and Diseases:

Child Nodes:

........

Distal sensory loss of all modalities (HP:0006984)

Sister Nodes:

Distal peripheral sensory neuropathy (HP:0007067)

Hyperesthesia (HP:0100963)

Paresthesia (HP:0003401)

Sensory ataxic neuropathy (HP:0003434)

Sensory axonal neuropathy (HP:0003390)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0003409	HP:0003409	Distal sensory impairment of all modalities	0	ATL1 CL E G H	51062	11231	OMIM:613708	Neuropathy, hereditary sensory, type ID		71
HP:0003409	HP:0003409	Distal sensory impairment of all modalities	0	CCT5 CL E G H	22948	1618	ORPHA:139578	Mutilating hereditary sensory neuropathy with spastic paraplegia		56
HP:0003409	HP:0003409	Distal sensory impairment of all modalities	0	CCT5 CL E G H	22948	1618	OMIM:256840	Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive		56
HP:0003409	HP:0003409	Distal sensory impairment of all modalities	0	DHH CL E G H	50846	2865	ORPHA:168563	46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome		21
HP:0003409	HP:0003409	Distal sensory impairment of all modalities	0	HINT1 CL E G H	3094	4912	ORPHA:324442	Autosomal recessive axonal neuropathy with neuromyotonia	HP:0040283 - Occasional	12
HP:0003409	HP:0003409	Distal sensory impairment of all modalities	0	HK1 CL E G H	3098	4922	ORPHA:99953	Charcot-Marie-Tooth disease type 4G		11
HP:0003409	HP:0003409	Distal sensory impairment of all modalities	0	MFN2 CL E G H	9927	16877	OMIM:601152	Hereditary motor and sensory neuropathy VI	.	203
HP:0003409	HP:0003409	Distal sensory impairment of all modalities	0	NAGA CL E G H	4668	7631	OMIM:609242	Kanzaki disease	.	47
HP:0003409	HP:0003409	Distal sensory impairment of all modalities	0	RNF170 CL E G H	81790	25358	OMIM:608984	Ataxia, sensory, autosomal dominant	.	3
HP:0003409	HP:0003409	Distal sensory impairment of all modalities	0	SPTLC1 CL E G H	10558	11277	OMIM:162400	Neuropathy, hereditary sensory and autonomic, type IA		54
HP:0003409	HP:0003409	Distal sensory impairment of all modalities	0	SPTLC2 CL E G H	9517	11278	OMIM:613640	Neuropathy, hereditary sensory and autonomic, type IC		149

Genes (10) :ATL1 CCT5 DHH HINT1 HK1 MFN2 NAGA RNF170 SPTLC1 SPTLC2

Diseases (11) :OMIM:613708 ORPHA:139578 OMIM:256840 ORPHA:168563 ORPHA:324442 ORPHA:99953 OMIM:601152 OMIM:609242 OMIM:608984 OMIM:162400 OMIM:613640

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

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